Autosomal dominant hypoparathyroidism

Families affected by ADH, autosomal dominant hypoparathyroidism, and hypocal-cemic hypercalcinria have each been defined by gain-of-function mutations in the CASR gene (44). ADH is associated with the expression of constitutively activated CASR, which serves to suppress PTH secretion from the parathyroid gland. In the kidney it induces hypercalciuria, which further contributes to the hypocalcemia. 

McLeod, D. R., Hanley, D. A., McArthur, R. G. 1989. Autosomal dominant hypoparathyroidism with intracranial calcification outside the basal ganglia. Am. J. Med. Genet. 32 32-5. 

Clinical and Genetic Features of Autosomal Dominant Hypoparathyroidism (OMIM) [ 601298]... 

Eftekhari, F and Yousefzadeh, D, 1982, Primary infantile hyperparathyroidism clinical, laboratory, and radiographic features in 21 cases, Skeletal Radiol 8 201-208 Finegold, DN, Armitage, MM, Galiani, M, Matise, TC, Pandian, MR, Perry, YM, Deka, R and Ferrell, RE, 1994, Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3ql3, Pediatr Res 36 414—417... 

Gain-of-fiinction mutations in the CASR gene have been identified in several families previously diagnosed with autosomal dominant hypocalcemia (ADH), autosomal dominant hypoparathyroidism, and hypocalcemic hypercalciuria [55], In the parathyroid gland, the activated CASR suppresses PTH secretion and in the kidney, it... 

Baron, J, Winer, KK, Yanovski, JA, Cunningham, AW, Laue, L, Zimmerman, D and Cutler, GB, Jr., 1996, Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism, Hum Mol Genet 5 601-606... 

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